Fanconi Anemia

Common Name(s)

Fanconi Anemia, Fanconi anemia, complementation group A

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

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Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Last Updated: 29 Apr 2014

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National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

Last Updated: 20 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

http://www.fanconicanada.org/en/

Last Updated: 24 Nov 2009

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

http://www.fanconi.org

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

http://www.nbmtlink.org

Last Updated: 20 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Anemia" returned 421 free, full-text research articles on human participants. First 3 results:

Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses.
 

Author(s): Min Peng, Jenny Xie, Anna Ucher, Janet Stavnezer, Sharon B Cantor

Journal: EMBO J.. 2014 Aug;33(15):1698-712.

 

Several proteins in the BRCA-Fanconi anemia (FA) pathway, such as FANCJ, BRCA1, and FANCD2, interact with mismatch repair (MMR) pathway factors, but the significance of this link remains unknown. Unlike the BRCA-FA pathway, the MMR pathway is not essential for cells to survive toxic ...

Last Updated: 2 Aug 2014

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Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.
 

Author(s): Lixian Chang, Weiping Yuan, Huimin Zeng, Quanquan Zhou, Wei Wei, Jianfeng Zhou, Miaomiao Li, Xiaomin Wang, Mingjiang Xu, Fengchun Yang, Yungui Yang, Tao Cheng, Xiaofan Zhu

Journal:

 

Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studies have been used generally in FA patients and in stepwise methods to identify ...

Last Updated: 4 Jun 2014

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Targeted gene therapy and cell reprogramming in Fanconi anemia.
 

Author(s): Paula Rio, Rocio Baños, Angelo Lombardo, Oscar Quintana-Bustamante, Lara Alvarez, Zita Garate, Pietro Genovese, Elena Almarza, Antonio Valeri, Begoña Díez, Susana Navarro, Yaima Torres, Juan P Trujillo, Rodolfo Murillas, Jose C Segovia, Enrique Samper, Jordi Surralles, Philip D Gregory, Michael C Holmes, Luigi Naldini, Juan A Bueren

Journal:

 

Gene targeting is progressively becoming a realistic therapeutic alternative in clinics. It is unknown, however, whether this technology will be suitable for the treatment of DNA repair deficiency syndromes such as Fanconi anemia (FA), with defects in homology-directed DNA repair. ...

Last Updated: 4 Jun 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Anemia" returned 41 free, full-text review articles on human participants. First 3 results:

Fanconi anemia: a signal transduction and DNA repair pathway.
 

Author(s): Gary M Kupfer

Journal:

 

Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility. Research in recent years has led to the elucidation of FA as a DNA repair disorder and involved multiple pathways as well as having wide applicability ...

Last Updated: 18 Dec 2013

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Why does the bone marrow fail in Fanconi anemia?
 

Author(s): Juan I Garaycoechea, K J Patel

Journal: Blood. 2014 Jan;123(1):26-34.

 

The inherited bone marrow failure (BMF) syndromes are a rare and diverse group of genetic disorders that ultimately result in the loss of blood production. The molecular defects underlying many of these conditions have been elucidated, and great progress has been made toward understanding ...

Last Updated: 3 Jan 2014

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TNF-α signaling in Fanconi anemia.
 

Author(s): Wei Du, Ozlem Erden, Qishen Pang

Journal: Blood Cells Mol. Dis.. 2014 Jan;52(1):2-11.

 

Tumor necrosis factor-alpha (TNF-α) is a major pro-inflammatory cytokine involved in systemic inflammation and the acute phase reaction. Dysregulation of TNF production has been implicated in a variety of human diseases including Fanconi anemia (FA). FA is a genomic instability syndrome ...

Last Updated: 3 Dec 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 19 Feb 2015

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Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
 

Status: Available

Condition Summary: Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

 

Last Updated: 21 Nov 2013

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Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 7 Jul 2014

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